Concepedia

Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects

Esther Kott, Marie Legendre, Bruno Copin, Jean‐François Papon, Florence Dastot‐Le Moal, Guy Montantin, Philippe Duquesnoy, William Piterboth, Daniel Amram, Laurence Bassinet,

The American Journal of Human Genetics · 2013 · 183 citations · 48 references

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48

A Human Syndrome Caused by Immotile Cilia

Björn A. Afzelius · Science · 1976 · 1.3K citations

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Reorganizing the protein space at the Universal Protein Resource (UniProt)

Nucleic Acids Research · 2011 · 1.2K citations · Full text

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A transposase strategy for creating libraries of circularly permuted proteins

Manan Mehta, Shirley Liu, Jonathan J. Silberg · Nucleic Acids Research · 2012 · 1.1K citations · Full text

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Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry

Heike Olbrich, Karsten Häffner, Andreas Kispert et al. · Nature Genetics · 2002 · 557 citations

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Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia

Gaëlle Pennarun, Estelle Escudier, Catherine Chapelin et al. · The American Journal of Human Genetics · 1999 · 394 citations · Full text

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